Investigating genetic factors that affect heart rhythm and sudden cardiac death
Deep Mutational Scanning and Functional Analysis of Repolarization Determinants
This study is looking at how certain genetic changes in potassium channels can cause heart rhythm problems and sudden cardiac death, with the goal of helping patients and their families better understand their heart health risks and improve care.
Quick facts
| Grant type | R01 grant |
|---|---|
| Study type | NIH-funded research |
| Funding institution | University of Wisconsin-Madison NIH-funded |
| Lab location | 1 site (Madison, United States) |
| Project ID | NIH-11059909 on NIH RePORTER |
What this research studies
This research focuses on understanding how genetic variations in potassium channels can lead to serious heart rhythm disorders and sudden cardiac death. By using advanced techniques to analyze these genetic variants, the study aims to improve the classification of variants that are currently unclassified or poorly understood. The approach involves creating high-volume assays to assess the functional impact of these genetic changes, which could lead to better clinical care and family screening for at-risk individuals. Patients may benefit from a more accurate understanding of their genetic risks and improved management of their heart health.
Who could benefit from this research
Good fit: Ideal candidates for this research include individuals with known or suspected genetic variants related to cardiac arrhythmias or those with a family history of sudden cardiac death.
Not a fit: Patients without any genetic predisposition to cardiac arrhythmias or those not at risk for sudden cardiac death may not benefit from this research.
Why it matters
Potential benefit: If successful, this research could lead to better identification and management of genetic heart conditions, potentially reducing the risk of sudden cardiac death.
How similar studies have performed: Previous research has shown promise in using functional genomics to classify genetic variants related to cardiac conditions, indicating that this approach could be effective.
Where this research is happening
Madison, United States
- University of Wisconsin-Madison — Madison, United States (Active)
Researchers
- Principal investigator: Eckhardt, Lee Lochbaum — University of Wisconsin-Madison
- Study coordinator: Eckhardt, Lee Lochbaum
About this research
- This is an active NIH-funded research project — typically early-stage science, not a clinical trial accepting patient enrollment.
- Some NIH-funded labs run parallel clinical studies or seek volunteers for related work. To check, contact the principal investigator or institution listed above.
- For full project details, budget, and progress reports, visit the official NIH RePORTER page below.